Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands

S.F.I. Reumers, C.E. Erasmus, K. Bouman, M. Pennings, M. Schouten, B. Kusters, F.A.M. Duijkers, A. van der Kooi, B. Jaeger, C.C. Verschuuren-Bemelmans, C.G. Faber, B.G. van Engelen, E.J. Kamsteeg, H. Jungbluth, N.C. Voermans*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)692-702
Number of pages11
JournalClinical Genetics
Volume100
Issue number6
Early online date25 Sep 2021
DOIs
Publication statusPublished - Dec 2021

Keywords

  • BIN1
  • centronuclear myopathy
  • cohort
  • DNM2
  • MTM1
  • Netherlands
  • RYR1
  • CONGENITAL MYOPATHIES
  • DYNAMIN 2
  • MYOTUBULAR MYOPATHY
  • MYOTONIC-DYSTROPHY
  • MUTATIONS
  • DISORDERS
  • FREQUENCY

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